Canonical Allele Identifier: CA1345067290

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142861C= , CM000665.2:g.10142861C=	GRCh38
NC_000003.11:g.10184545C= , CM000665.1:g.10184545C=	GRCh37
NC_000003.10:g.10159545C=	NCBI36
NG_008212.3:g.6227C= , LRG_322:g.6227C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.439C=	ENSP00000512434.1:p.Gln147=
ENST00000696143.1:c.439C=	ENSP00000512435.1:p.Gln147=
ENST00000696153.1:c.340+674C=	ENSP00000512444.1:n.340+674C=
ENST00000256474.3:c.340+674C= MANE Select	ENSP00000256474.3:n.340+674C=
ENST00000256474.2:c.340+674C=	ENSP00000256474.2:n.340+674C=
ENST00000345392.2:c.340+674C=	ENSP00000344757.2:n.340+674C=
ENST00000477538.1:n.316C=
NM_000551.3:c.340+674C= , LRG_322t1:c.340+674C=	NP_000542.1:n.340+674C=
NM_198156.2:c.340+674C=	NP_937799.1:n.340+674C=
XM_011534078.1:c.439C=	XP_011532380.1:p.Gln147=
NM_001354723.1:c.439C=	NP_001341652.1:p.Gln147=
NM_000551.4:c.340+674C= MANE Select	NP_000542.1:n.340+674C=
NM_001354723.2:c.439C=	NP_001341652.1:p.Gln147=
NM_198156.3:c.340+674C=	NP_937799.1:n.340+674C=